CYB5R1 Gene Summary [Human]
Predicted to enable FAD binding activity. Predicted to be involved in bicarbonate transport. Located in extracellular exosome; membrane; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | CYB5R1 |
| Official Name | cytochrome b5 reductase 1 [Source:HGNC Symbol;Acc:HGNC:13397] |
| Ensembl ID | ENSG00000159348 |
| Bio databases IDs | |
| Aliases | cytochrome b5 reductase 1 |
| Synonyms | 1500005G05Rik, B5R1, B5R.1, B5R2, cytochrome b5 reductase 1, humb5R2, NAD(P)H:Quinone Oxidoreductase Type 3 Polypeptide A2, NQO3A2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CYB5R1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FNR_like
- Oxidoreductase FAD-binding domain
- cytochrome-b5 reductase
- enzyme
- protein binding
- Oxidoreductase NAD-binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- methemoglobinemia type I
- methemoglobinemia type II
- essential thrombocythemia
- Parkinson disease
regulates
- hydrogen peroxide
- lipid
- bicarbonate
- phospholipid
role in cell
- production in
- ferroptosis
- leakage
- peroxidation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- Mitochondria
- cytosol
- endoplasmic reticulum membrane
- alpha granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYB5R1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bicarbonate transport
- sterol biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular vesicular exosome
- platelet alpha granule membrane
- membrane
- mitochondrion
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- FAD binding
- cytochrome-b5 reductase activity
- protein binding